Wolcott-Rallison syndrome
Information
- Disease name
- Wolcott-Rallison syndrome
- Disease ID
- DOID:0090060
- Description
- "A syndrome that is characterized by permanent neonatal diabetes mellitus with multiple epiphyseal dysplasia, osteoporosis, growth retardation and frequently hepatic and renal dysfunction that has_material_basis_in homozygous mutation in the eukaryotic translation initiation factor 2 alpha kinase 3 (EIF2AK3) gene on chromosome 2p11.2." [url:https\://www.ncbi.nlm.nih.gov/pubmed/30906465, url:https\://www.omim.org/entry/226980]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT03988764 | Recruiting | Monogenic Diabetes Misdiagnosed as Type 1 | September 24, 2019 | December 31, 2025 |
- Disase is a (Disease Ontology)
- DOID:225
- Cross Reference ID (Disease Ontology)
- ICD10CM:E13
- Cross Reference ID (Disease Ontology)
- MESH:C536739
- Cross Reference ID (Disease Ontology)
- MIM:226980
- Cross Reference ID (Disease Ontology)
- ORDO:1667
- OrphaNumber from OrphaNet (Orphanet)
- 1667